N
Norio Sakai
Researcher at Osaka University
Publications - 31
Citations - 1509
Norio Sakai is an academic researcher from Osaka University. The author has contributed to research in topics: Missense mutation & Leukodystrophy. The author has an hindex of 18, co-authored 30 publications receiving 1394 citations.
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Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion
Hugo Vega,Hugo Vega,Quinten Waisfisz,Miriam Gordillo,Miriam Gordillo,Norio Sakai,Itaru Yanagihara,Minoru Yamada,Djoke van Gosliga,Hülya Kayserili,Chengzhe Xu,Keiichi Ozono,Ethylin Wang Jabs,Koji Inui,Hans Joenje +14 more
TL;DR: A new human gene, ESCO2, associated with Roberts syndrome in 15 kindreds is identified and is a member of a conserved protein family that is required for the establishment of sister chromatid cohesion during S phase and has putative acetyltransferase activity.
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Pax1 and Pax9 synergistically regulate vertebral column development
TL;DR: Functional redundancy between Pax1 and Pax9 during vertebral column development is revealed and an early role of Pax1and Pax9 in the control of cell proliferation during early sclerotome development is identified.
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Skeletal defects in ringelschwanz mutant mice reveal that Lrp6 is required for proper somitogenesis and osteogenesis
Chikara Kokubu,Ulrich Heinzmann,Tomoko Kokubu,Norio Sakai,Takuo Kubota,Masanobu Kawai,Matthias B. Wahl,Juan Galceran,Rudolf Grosschedl,Keiichi Ozono,Kenji Imai +10 more
TL;DR: It is proposed that Lrp6, a coreceptor for Wnt ligands, is one of the key genetic components for the pathogenesis of vertebral segmentation defects and of osteoporosis in humans.
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Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation
TL;DR: Several mutations common to Japanese patients are confirmed, the two most frequent being 12Del3Ins and I66M+I289V, which account for 37% of all mutant alleles, and Screening for these mutations may provide an effective method with which to predict the clinical phenotype.
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Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation
Takanobu Otomo,T Muramatsu,Tohru Yorifuji,Torayuki Okuyama,Hiroki Nakabayashi,Toshiyuki Fukao,Toshihiro Ohura,Makoto Yoshino,Akemi Tanaka,Nobuhiko Okamoto,Koji Inui,Keiichi Ozono,Norio Sakai +12 more
TL;DR: The results show the effective molecular diagnosis of ML II and III and also provide phenotypic prediction, which is the first and comprehensive report of molecular analysis for ML patients of Japanese origin.